Metachronous Diffuse Large B-Cell Lymphoma and Kaposi Sarcoma of the Right Eyelid and Lacrimal Gland in a Patient with Granulomatous Common Variable Immunodeficiency

Abstract

Purpose: To describe the ophthalmic and histopathological features of a female with granulomatous common variable immunodeficiency (CVID) who presented with upper-lid swelling. Procedures: The patient underwent a biopsy of the right upper lid/palpebral lacrimal gland with imaging showing a left-sided nasopharyngeal mass, multiple lymph nodes within the mediastinum, bilateral lung nodules and a peritoneal nodule in the right iliac fossa. The right upper-lid swelling progressed and was subject to a second biopsy. Results: The first right upper-lid biopsy revealed a diffuse large B-cell lymphoma (DLBCL), confirmed with clonal IgH gene rearrangement with PCR. The nasopharyngeal mass and lymph nodes were suspected clinically to be DLBCL. However, a biopsy of the nasopharyngeal mass showed Kaposi sarcoma (KS). The second biopsy of the right upper lid/palpebral lacrimal gland revealed KS with no evidence of DLBCL. Conclusion: This is the first documentation of periocular/orbital metachronous DLBCL and KS in a patient with granulomatous CVID. We discuss the role of fluctuating immunity in CVID to explain the spontaneous regression of the DLBCL and the varying clinical picture.

Altered Spectrum of Lymphoid Neoplasms in a Single-Center Cohort of Common Variable Immunodeficiency with Immune Dysregulation

“…To our knowledge, mantle cell lymphomas that predominantly derive from mature B cells that do not enter the follicular germinal center and carry no or a limited number of IGHV somatic mutations are not reported among the CVID-associated lymphoid neoplasms. Follicular lymphoma, in which hypermutation and class switching occur early in the lymphoma development, is uncommon in CVID (3 of 53 cases [ 11 , 13 , 31 , 32 ]). It was also not present in our cohort despite its prevalence of 16% in the general population [ 24 ].…”

Immunodeficiencies that predispose to pathologies by human oncogenic γ-herpesviruses

“… 2005 ; Gangemi, Allegra and Musolino 2015 ; Stenton et al. 2016 ). Furthermore, mutations in both stromal interaction molecule 1 (STIM1) and tumor necrosis factor receptor superfamily member 4 (TNFRSF4, OX40 or CD134) predispose selectively for KS in children (Byun et al.…”

Kaposi Sarcoma With Coexisting Intravascular Lymphoma

“…2,3 Metachronous KS and NHL has also been reported in a HIV-negative immunocompromised individual. 4 Like KS, intravascular lymphoma is a rare HHV-8 (KSHV)-related manifestation of AIDS. 5 Given that both KS and lymphoma tumorigenesis often involve HHV8, it is surprising that more of these collision tumors have not been reported in association with HIV/AIDS.…”